Inherited arrhythmia syndrome predisposing to sudden cardiac death

Korean J Intern Med. 2021 May;36(3):527-538. doi: 10.3904/kjim.2020.481. Epub 2021 Mar 26.

Abstract

Inherited arrhythmia (IA) is one of the main causes of sudden cardiac death (SCD) in young people, and is reported to be a more prevalent cause of SCD in Asia than in Western countries. IAs are a group of genetic disorders caused by mutations in genes encoding cardiac ion channels, leading to electrophysiological characteristics that often occur in the absence of structural abnormalities. Channelopathies, such as long QT syndrome and Brugada syndrome, carry a potential risk of life-threatening ventricular tachyarrhythmias that predispose to SCD, although early prediction and prevention of the risk remain challenging. Recent advances in genetic testing have facilitated risk stratification as well as a precise diagnosis for IA, despite ongoing debates about the implications. Herein, we provide epidemiological data, a pathophysiological overview, and the current clinical approach to IAs related to SCD. In addition, we review the general issues arising from genetic testing for IAs.

Keywords: Channelopathies; Death, sudden, cardiac; Genetic testing; Inherited arrhythmia; Precision medicine.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adolescent
  • Arrhythmias, Cardiac / diagnosis
  • Arrhythmias, Cardiac / genetics
  • Arrhythmias, Cardiac / therapy
  • Asia
  • Brugada Syndrome* / diagnosis
  • Brugada Syndrome* / genetics
  • Brugada Syndrome* / therapy
  • Channelopathies*
  • Death, Sudden, Cardiac / epidemiology
  • Death, Sudden, Cardiac / etiology
  • Death, Sudden, Cardiac / prevention & control
  • Humans